Canonical Allele Identifier: CA411799138

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628182G>A , CM000684.2:g.42628182G>A	GRCh38
NC_000022.10:g.43024188G>A , CM000684.1:g.43024188G>A	GRCh37
NC_000022.9:g.41354132G>A	NCBI36
NG_012194.1:g.26218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.433C>T	ENSP00000354468.5:p.Pro145Ser
ENST00000402438.6:c.364C>T	ENSP00000385679.1:p.Pro122Ser
ENST00000407332.6:c.451C>T	ENSP00000384457.2:p.Pro151Ser
ENST00000407623.8:c.364C>T	ENSP00000384834.3:p.Pro122Ser
ENST00000438270.2:c.364C>T	ENSP00000403439.2:p.Pro122Ser
ENST00000684963.1:n.1710C>T
ENST00000686129.1:c.364C>T	ENSP00000508623.1:p.Pro122Ser
ENST00000686523.1:c.*382C>T	ENSP00000508940.1:n.*382C>T
ENST00000687183.1:n.494C>T
ENST00000687198.1:c.364C>T	ENSP00000508492.1:p.Pro122Ser
ENST00000688117.1:c.532C>T	ENSP00000509015.1:p.Pro178Ser
ENST00000688244.1:c.333+2700C>T	ENSP00000510355.1:n.333+2700C>T
ENST00000689001.1:n.840C>T
ENST00000689195.1:c.433C>T	ENSP00000509895.1:p.Pro145Ser
ENST00000689239.1:n.600C>T
ENST00000689795.1:n.595C>T
ENST00000690835.1:c.433C>T	ENSP00000509038.1:p.Pro145Ser
ENST00000690993.1:n.510C>T
ENST00000691295.1:c.334-494C>T	ENSP00000508706.1:n.334-494C>T
ENST00000691918.1:c.412C>T	ENSP00000509525.1:p.Pro138Ser
ENST00000692152.1:c.364C>T	ENSP00000509317.1:p.Pro122Ser
ENST00000692344.1:n.457C>T
ENST00000693157.1:c.353C>T	ENSP00000510610.1:n.353C>T
ENST00000693363.1:c.433C>T	ENSP00000510411.1:p.Pro145Ser
ENST00000693367.1:c.433C>T	ENSP00000508815.1:p.Pro145Ser
ENST00000693639.1:c.426C>T	ENSP00000510223.1:p.Ala142=
ENST00000693646.1:c.339C>T	ENSP00000508449.1:p.Ala113=
ENST00000352397.10:c.433C>T MANE Select	ENSP00000338461.6:p.Pro145Ser
ENST00000352397.9:c.433C>T	ENSP00000338461.6:p.Pro145Ser
ENST00000361740.8:c.532C>T	ENSP00000354468.4:p.Pro178Ser
ENST00000402438.5:c.364C>T	ENSP00000385679.1:p.Pro122Ser
ENST00000407332.5:c.364C>T	ENSP00000384457.1:p.Pro122Ser
ENST00000407623.7:c.364C>T	ENSP00000384834.3:p.Pro122Ser
ENST00000438270.1:c.364C>T	ENSP00000403439.1:p.Pro122Ser
ENST00000470741.1:n.2567C>T
NM_000398.6:c.433C>T	NP_000389.1:p.Pro145Ser
NM_001129819.2:c.364C>T	NP_001123291.1:p.Pro122Ser
NM_001171660.1:c.532C>T	NP_001165131.1:p.Pro178Ser
NM_001171661.1:c.364C>T	NP_001165132.1:p.Pro122Ser
NM_007326.4:c.364C>T	NP_015565.1:p.Pro122Ser
NM_000398.7:c.433C>T MANE Select	NP_000389.1:p.Pro145Ser
NM_001171660.2:c.532C>T	NP_001165131.1:p.Pro178Ser